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Disease	Synonyms	Description
autosomal dominant nonsyndromic deafness 2A	autosomal dominant deafness 2A; DFNA2A;	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized by high frequency progressive hearing loss and has_material_basis_in mutation in the KCNQ4 gene on chromosome 1p34.2. [-]
autosomal dominant nonsyndromic deafness 2B	autosomal dominant deafness 2B; DFNA2B;	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the fourth decade of life with by high frequency progressive hearing loss and has_material_basis_in mutation in the GJB3 gene on chromosome 1p34.3. [-]
autosomal dominant nonsyndromic deafness 30	autosomal dominant deafness 30; DFNA30;	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 15q25-q26. [-]
autosomal dominant nonsyndromic deafness 31	autosomal dominant deafness 31; DFNA31;	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 6p21.3. [-]
autosomal dominant nonsyndromic deafness 33	autosomal dominant deafness 33; DFNA33;	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 13q34. [-]
autosomal dominant nonsyndromic deafness 34		An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q44. [-]
autosomal dominant nonsyndromic deafness 36	autosomal dominant deafness 36; DFNA36;	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently downsloping audioprofiles and has_material_basis_in mutation in the TMC1 gene on chromosome 9q21. [-]
autosomal dominant nonsyndromic deafness 3A	autosomal dominant deafness 3A; DFNA3A;	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized by prelingual, high frequency hearing loss and has_material_basis_in mutation in the GJB2 gene on chromosome 13q12. [-]
autosomal dominant nonsyndromic deafness 3B	autosomal dominant deafness 3B; DFNA3B;	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the GJB6 gene on chromosome 13q12. [-]
autosomal dominant nonsyndromic deafness 40	autosomal dominant deafness 40; DFNA40;	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the CRYM gene on chromosome 16p12. [-]
autosomal dominant nonsyndromic deafness 41	autosomal dominant deafness 41; DFNA41;	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat progressive hearing loss and has_material_basis_in mutation in the P2RX2 gene on chromosome 12q24. [-]
autosomal dominant nonsyndromic deafness 43	autosomal dominant deafness 43; DFNA43;	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p12. [-]
autosomal dominant nonsyndromic deafness 44	autosomal dominant deafness 44; DFNA44;	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized postlingual onset with low to mild frequency progressive hearing loss and has_material_basis_in mutation in the CCDC50 gene on chromosome 3q28. [-]
autosomal dominant nonsyndromic deafness 47	autosomal dominant deafness 47; DFNA47;	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 9p22-p21. [-]
autosomal dominant nonsyndromic deafness 48	autosomal dominant deafness 48; DFNA48;	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with progressive hearing loss and has_material_basis_in variation in the chromosome region 12q13-q14. [-]
autosomal dominant nonsyndromic deafness 49	autosomal dominant deafness 49; DFNA49;	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized by moderate loss for low and mid frequencies and mild loss for high frequencies and has_material_basis_in variation in the chromosome region 1q21-q23. [-]
autosomal dominant nonsyndromic deafness 4A	autosomal dominant deafness 4A; DFNA4A;	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently sloping hearing audioprofiles and has_material_basis_in mutation in the MYH14 gene on chromosome 19q13.33. [-]
autosomal dominant nonsyndromic deafness 4B	autosomal dominant deafness 4B; DFNA4B;	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the CEACAM16 gene on chromosome 19q13. [-]
autosomal dominant nonsyndromic deafness 5	autosomal dominant deafness 5; DFNA5;	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the first decade of life and high frequency progressive hearing loss, and has_material_basis_in heterozygous mutation in the gasdermin E (GSDME) gene on chromosome 7p15. [-]
autosomal dominant nonsyndromic deafness 50	autosomal dominant deafness 50; DFNA50;	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the second decade of life with flat progressive hearing loss and has_material_basis_in mutation in the MIRN96 gene on chromosome 7q32. [-]
autosomal dominant nonsyndromic deafness 51	autosomal dominant deafness 51; chromosome 9q21.11.. [+] autosomal dominant deafness 51; chromosome 9q21.11 duplication syndrome; DFNA51; [-]	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the fourth decade of life with high frequency progressive hearing loss and has_material_basis_in a 269-kb duplication of chromosome 9q21.11 involving the TJP2 and FAM189A2 genes. [-]
autosomal dominant nonsyndromic deafness 52	autosomal dominant deafness 52; DFNA52;	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 5q31.1-q32. [-]
autosomal dominant nonsyndromic deafness 53	autosomal dominant deafness 53; DFNA53;	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 14q11.2-q12. [-]
autosomal dominant nonsyndromic deafness 54	autosomal dominant deafness 54; DFNA54;	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 5q31. [-]
autosomal dominant nonsyndromic deafness 56	autosomal dominant deafness 56; DFNA56;	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the TNC gene on chromosome 9q33. [-]
autosomal dominant nonsyndromic deafness 58	autosomal dominant deafness 58; DFNA58;	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p21-p12. [-]
autosomal dominant nonsyndromic deafness 59	autosomal dominant deafness 59; DFNA59;	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 11p14.2-q12.3. [-]
autosomal dominant nonsyndromic deafness 6	autosomal dominant deafness 14; autosomal dominant.. [+] autosomal dominant deafness 14; autosomal dominant deafness 38; autosomal dominant deafness 6; DFNA14; DFNA38; DFNA6; [-]	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and low frequency progressive hearing loss and has_material_basis_in mutation in the WFS1 gene on chromosome 4p16. [-]
autosomal dominant nonsyndromic deafness 64	autosomal dominant deafness 64; DFNA64;	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the DIABLO gene on chromosome 12q24. [-]
autosomal dominant nonsyndromic deafness 65	autosomal dominant deafness 65; DFNA65;	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the TBC1D24 gene on chromosome 16p13. [-]
autosomal dominant nonsyndromic deafness 66	autosomal dominant deafness 66; DFNA66;	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the CD164 gene on chromosome 6q21. [-]
autosomal dominant nonsyndromic deafness 67	autosomal dominant deafness 67; DFNA67;	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the OSBPL2 gene on chromosome 20q13. [-]
autosomal dominant nonsyndromic deafness 68	autosomal dominant deafness 68; DFNA68;	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the HOMER2 gene on chromosome 15q25. [-]
autosomal dominant nonsyndromic deafness 69	autosomal dominant deafness 69; DCUA; DFNA69; unil.. [+] autosomal dominant deafness 69; DCUA; DFNA69; unilateral or asymmetric congenital deafness; [-]	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the KITLG gene on chromosome 12q21. [-]
autosomal dominant nonsyndromic deafness 7	autosomal dominant deafness 7; DFNA7;	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized by progressive high-tone hearing loss and has_material_basis_in variation in the chromosome region 1q21-q23. [-]
autosomal dominant nonsyndromic deafness 70	autosomal dominant deafness 70; DFNA70;	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the MCM2 gene on chromosome 3q21. [-]
autosomal dominant nonsyndromic deafness 72		An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the SLC44A4 gene on chromosome 6p21. [-]
autosomal dominant nonsyndromic deafness 75	DFNA75;	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the TRRAP gene on chromosome 7q22.1. [-]
autosomal dominant nonsyndromic deafness 9	autosomal dominant deafness 9; DFNA9;	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second decade with high frequency progressive hearing loss and has_material_basis_in mutation in the COCH gene on chromosome 14q12. [-]
autosomal dominant osteopetrosis 1	autosomal dominant osteopetrosis type 1; OPTA1;	An osteopetrosis characterized by autosomal domina..[+] An osteopetrosis characterized by autosomal dominant inheritance of generalized osteosclerosis that is most pronounced in the cranial vault, absence of increased fractures and has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13. [-]
autosomal dominant osteopetrosis 2	Albers-Schonberg osteopetrosis; autosomal dominant.. [+] Albers-Schonberg osteopetrosis; autosomal dominant Albers-Schonberg disease; autosomal dominant osteopetrosis type II; OPTA2; osteopetrosis autosomal dominant type 2; [-]	An osteopetrosis characterized by autosomal domina..[+] An osteopetrosis characterized by autosomal dominant inheritance of sclerosis predominantly involving the spine, the pelvis, and the skull base, bone fragility and dental abscesses that has_material_basis_in mutation in the CLCN7 gene on chromosome 16p13. [-]
autosomal dominant polycystic kidney disease	Congenital biliary ectasias; POLYCYSTIC KIDNEY AND.. [+] Congenital biliary ectasias; POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1; [-]	An autosomal dominant disease characterized by the..[+] An autosomal dominant disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium. [-]
autosomal dominant progressive external ophthalmoplegia 1	PEOA1;	A chronic progressive external ophthalmoplegia tha..[+] A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the POLG gene on chromosome 15q26.1. [-]
autosomal dominant pseudohypoaldosteronism type 1	autosomal dominant PHA 1; PHA1A;	A pseudohypoaldosteronism characterized by Salt wa..[+] A pseudohypoaldosteronism characterized by Salt wasting resulting from renal unresponsiveness to mineralocorticoids that has_material_basis_in heterozygous mutation in the NR3C2 gene on chromosome 4q31. [-]
autosomal dominant sensory ataxia 1	ADSA; SNAX1;	A hereditary ataxia characterized by gait difficul..[+] A hereditary ataxia characterized by gait difficulty and instability especially in dark conditions resulting from sensory loss in the extremities and without cerebellar involvement that has_material_basis_in heterozygous mutations in the RNF170 gene on chromosome 8. [-]
autosomal dominant sideroblastic anemia		A sideroblastic anemia characterized by an autosom..[+] A sideroblastic anemia characterized by an autosomal dominant inheritance pattern. [-]
autosomal dominant spondyloepiphyseal dysplasia tarda		A spondyloepiphyseal dysplasia tarda that has_mate..[+] A spondyloepiphyseal dysplasia tarda that has_material_basis_in heterozygous mutation in a region of chromosome 12q13. [-]
autosomal dominant thrombophilia due to protein C deficiency	autosomal dominant PROC deficiency; autosomal domi.. [+] autosomal dominant PROC deficiency; autosomal dominant protein C deficiency; THPH3; [-]	A thrombophilia characterized by reduced serum lev..[+] A thrombophilia characterized by reduced serum levels or impaired activity of PROC and in some patients recurrent venous thrombosis that has_material_basis_in heterozygous mutation in the PROC gene on chromosome 2q14.3. [-]
autosomal dominant type IV Ehlers-Danlos syndrome		n_a
autosomal genetic disease		A monogenic disease that is has material basis in ..[+] A monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes. [-]